巨噬细胞活化综合征的临床和实验室特征分析

Clinical and laboratory features of macrophage activation syndrome

目的分析巨噬细胞活化综合征(MAS)患儿诊断初期的临床和实验室特征,探索早期识别MAS的方法。方法回顾性分析21例MAS患儿的临床、实验室特征,以及治疗和转归。结果 MAS患儿的原发病包括全身型幼年特发性关节炎(SJIA)14例、川崎病(KD)5例和结缔组织病(CTD)2例。发生MAS的中位时间为19 d,以KD-MAS发生最快,CTD-MAS发生最晚(P=0.009)。前10位的临床症状依次为发热(95%),皮疹(86%),淋巴结肿大(67%),骨髓吞噬现象(63%),肺部病变(62%),浆膜腔积液(62%),肝肿大(52%),脑脊液异常(50%),中枢神经系统损害(43%)和脾肿大(38%)。实验室特征方面,血红蛋白降低;超敏C反应蛋白、血沉升高、血清铁蛋白明显升高;谷丙转氨酶、谷草转氨酶、乳酸脱氢酶和甘油三酯升高;纤维蛋白原降低,D-二聚体明显升高;IL-6、IL-10和IFN-γ明显升高。21例患儿中20例好转出院。结论风湿性疾病患儿如出现持续发热,肝功能损害,凝血功能异常,甚至多脏器损害,以及IL-10、IFN-γ明显升高和血清铁蛋白持续升高,要高度警惕MAS发生。

Objective To study the clinical and laboratory features of macrophage activation syndrome（MAS） at the early stage of diagnosis, and to explore a method for early identification of MAS. Methods A retrospective analysis was performed for the demographic data, clinical and laboratory features, and treatment outcomes of 21 MAS patients. Results Of the 21 MAS patients, 14 had systemic juvenile idiopathic arthritis, 5 had Kawasaki disease（KD）, and 2 had connective tissue disease（CTD） as primary diseases. The median time of MAS onset was 19 days. The KD patients had the shortest time of MAS onset, while the CTD patients had the longest onset time（P=0.009）. The top 10 clinical symptoms were fever（95%）, rash（86%）, lymph node enlargement（67%）, hemophagocytic phenomenon in bone marrow（63%）, pulmonary disease（62%）, serous effusion（62%）, hepatomegaly（52%）, cerebrospinal fluid abnormalities（50%）, central nervous system damage（43%）, and splenomegaly（38%）. The median of hemoglobin level was lower than the normal value. The medians of C-reactive protein level and erythrocyte sedimentation rate were higher than the normal values. There were significant increases in serum ferritin, glutamic-pyruvic transaminase, aspartate aminotransferase, lactate dehydrogenase, and triglyceride. The median of fibrinogen level was lower than the normal value. There were significant increases in D-dimer, interleukin-6（IL-6）, interleukin-10（IL-10）, and interferon-γ（IFN-γ）. Of the 21 patients, 20 were improved and discharged. Conclusions If patients with rheumatic disease have persistent fever, hepatic dysfunction, coagulation disorders, multiple organ impairment, significantly increased IL-10 and IFN-γ, and a persistent increase in serum ferritin, the development of MAS should be considered.